SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1698864575 CPS1 Health Risk Pathogenic Inborn genetic diseases, Congenital hyperammonemia
RS1698929326 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1698930454 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1698933356 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1698937795 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS1698940903 SCN1A Health Risk Pathogenic —
RS1698941202 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1698943949 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1698958540 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1698958802 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1698959620 ABCA12 Health Risk Pathogenic —
RS1698959938 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1698960532 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1698961617 SCN1A;SCN1A-AS1 Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1698962501 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS16989673 PTPN1 Health Risk risk factor Insulin resistance, susceptibility to
RS1699000892 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1699001242 GLB1 Health Risk Likely pathogenic —
RS1699002261 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
RS1699004800 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1699008262 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1699065038 KCNJ13 Health Risk Conflicting classifications of pathogenicity Snowflake vitreoretinal degeneration, Snowflake vitreoretinal degeneration
RS1699077839 MOCOS Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS1699086565 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
RS1699088102 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1699091441 KCNJ13 Health Risk Pathogenic Leber congenital amaurosis 16, Leber congenital amaurosis 16
RS1699143102 SCN1A Health Risk Pathogenic —
RS1699147493 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1699148940 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1699149959 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1699157096 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS16991654 KCNE2 Health Risk Pathogenic Long QT syndrome 3/6, digenic
RS1699208458 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1699223440 KCNJ13 Health Risk Likely pathogenic Leber congenital amaurosis 16, Leber congenital amaurosis 16
RS1699234403 TRAF3IP1 Health Risk Pathogenic —
RS1699247877 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1699275754 D2HGDH Health Risk Pathogenic D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS1699291583 GLB1 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1699309581 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1699310308 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1699310540 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1699346690 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1699349663 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS1699352567 TGFBR2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1699353976 SCN1A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1699354286 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1699357096 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1699358560 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS1699361288 TGFBR2 Health Risk Likely pathogenic —
RS1699364791 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1699364897 SCN2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1699366355 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy
RS1699366480 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1699367901 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1699391960 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1699392675 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1699393106 TGFBR2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1699393884 TGFBR2 Health Risk Conflicting classifications of pathogenicity Malignant tumor of esophagus, Familial thoracic aortic aneurysm and aortic dissection
RS1699440055 GNAT1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness autosomal dominant 3
RS1699472771 ABCA12 Health Risk Pathogenic —
RS1699475154 SCN2A Health Risk Likely pathogenic —
RS1699475919 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1699476042 SCN2A Health Risk Likely pathogenic —
RS1699477928 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1699478461 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1699481130 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1699489239 SCN2A Health Risk Likely pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS16995639 DPM1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS1699567459 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A
RS1699587892 ABCA12 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A
RS1699641688 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1699706945 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1699708963 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1699709401 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1699711208 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1699765928 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, Mucopolysaccharidosis
RS1699766499 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis
RS1699791081 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS1699797900 LARS2 Health Risk Pathogenic —
RS1699828609 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1699849996 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1699869352 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B
RS16999131 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS1699948037 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1699956677 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1699979419 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1699994369 PIKFYVE Health Risk Likely pathogenic —
RS1700009371 LARS2 Health Risk Likely pathogenic —
RS1700011294 SAG Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1700022340 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS1700027349 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1700065319 ABCA12 Health Risk Pathogenic —
RS1700068946 SCN2A Health Risk Likely pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1700069190 SCN2A Health Risk Conflicting classifications of pathogenicity —
RS1700069881 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1700070748 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS1700077715 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1700084097 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1700085731 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1700085960 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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